CIViC Compass
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IDH2

CIViC ID: 27 · Entrez: 3418

Aliases: D2HGA2,ICD-M,IDH,IDHM,IDP,IDPM,mNADP-IDH,IDH2,IDH-2

Description

IDH2 mutations have been observed in a number of cancer types, including sarcomas, hematologic malignancies, colon cancer and brain cancer. Mutations in the two isocitrate dehydrogenase enzymes involved in cytoplasmic (IDH1) and mitochondrial (IDH2) conversion of alpha-ketoglutarate to D-2-hydroxyglutarate have been described as mutually exclusive in many of these cancer types. The most frequent mutations involve R132 (IDH1) and R172 (IDH2) involve the active site and result in neomorphic enzyme activity. Although IDH2 (R172) mutations are associated with poorer overall prognosis in AML patients, its utility as a prognostic marker in MDS is still under debate. Additionally, IDH2 (R140) has been associated with improved overall survival in AML. IDH2 mutations have been associated with improved prognosis in gliomas.

Cyan = gene  ·  Slate = variant  ·  Green = drug  ·  Click variant to filter table

Variants (6)

CIViC IDNameHGVSType(s)
570Mutationprotein_altering_variant
62R140
ARG140
protein_altering_variant
199R172
ARG172
protein_altering_variant
4459R172G
63R172K
ARG172LYS,R120K,RS121913503
NC_000015.9:g.90631838C>T,NM_002168.3:c.515G>A,NP_002159.2:p.Arg172Lys,ENST00000330062.3:c.515G>Amissense_variant
4462R172W